Unraveling the Genetic Mysteries of Heart Disease: Insight into Hypertrophic Cardiomyopathy Through Genome Sequencing
by Micaela Harris-Kim
November 11, 2025
Hypertrophic cardiomyopathy is a condition characterized by the thickening of the left cardiac ventricle. Notably, less than 50% of hypertrophic cardiomyopathy cases have a known genetic cause. Due to the variable nature of the disease, in terms of gene presentation and expressivity, understanding its genetic foundation is essential in developing improved therapeutic strategies to combat the disease.
A team of researchers at Stanford University, led by Malene Lindholm, PhD, and Matthew Wheeler, MD, used genomic sequencing to examine complete genetic panels of individuals to assess where hypertrophic cardiomyopathy presents. Due to the emergence of its improved technology, genomic sequencing offers unparalleled opportunities to analyze patients’ comprehensive genetic makeup. In a recent study published in Frontiers in Cardiovascular Medicine, the investigators found common patterns of genetic variants found in patients with hypertrophic cardiomyopathy compared to the healthy control genes. Additionally, the study also indicates variability in disease severity among family members with the same genetic mutations, suggesting that inherited genes may influence how severely the disease manifests in patients.
The implications of this study show the complex genetic nature of hypertrophic cardiomyopathy and demonstrate how genome sequencing is a promising therapeutic tool to further understand the disease’s nature through genetic variants. Additionally, the study showcases the vast capabilities of genome sequencing and how this tool can be used to further study the genetic makeup of cardiovascular disease.
Additional Cardiovascular Institute members include Sarah Abramowitz, Daryl Waggott, Frederick Dewey, Aleksandra Pavlovic, Ching Shang, Leore Bensabath, Ayca Erbilgin, James Priest, and Euan Ashley.
Dr. Matthew Wheeler